Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11554290 0.583 0.600 1 114713908 missense variant T/A;C;G snv 59
rs121913237 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 50
rs1057519695 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 35
rs1057519834 0.658 0.480 1 114713908 missense variant TG/CT mnv 31
rs121434596 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 26
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs121434595 0.708 0.320 1 114716124 missense variant C/A;G;T snv 19
rs4553808 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 28
rs121913506
KIT
0.677 0.320 4 54733154 missense variant G/A;C;T snv 24
rs1057519710
KIT
0.695 0.280 4 54733166 missense variant G/C;T snv 22
rs11555293 1.000 0.080 4 57110126 missense variant C/T snv 1.4E-05 1
rs121918546 1.000 0.080 5 143041855 missense variant A/C;G snv 4.3E-06; 4.3E-06 1
rs140461950 1.000 0.080 8 122951616 missense variant G/A;T snv 8.8E-05 3.5E-05 1
rs77375493 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 187
rs562015640 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 16
rs267606706
CBL
0.807 0.240 11 119278181 missense variant T/A;C snv 8.0E-06 9
rs387906666
CBL
0.827 0.080 11 119278182 missense variant A/C;G snv 5
rs727504426
CBL
0.882 0.320 11 119278508 splice acceptor variant A/G snv 3
rs776906066
CBL
1.000 0.080 11 119206455 missense variant G/A snv 1
rs121913529 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs121913530 0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs121918459 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 47
rs397507520 0.658 0.520 12 112453279 missense variant G/C;T snv 39
rs112445441 0.658 0.400 12 25245347 missense variant C/A;G;T snv 32
rs121918455 0.695 0.440 12 112477720 missense variant A/C;G snv 31